Researchers report a mild disease course of SARS-CoV-2 and mild side effects from the SARS-CoV-2 vaccine in a cohort of 15 Dutch patients with Pompe disease and noted that no patients needed hospitalization or an increase in ventilatory support, as published in the Orphanet Journal of Rare Diseases.

Due to mobility impairments, sarcopenia and reduced respiratory function, patients with Pompe disease are at medium to high risk of severe COVID-19, according to the World Muscle Society Group. Therefore, all patients with Pompe disease at the Center for Lysosomal and Metabolic Diseases of Erasmus University Medical Center in Rotterdam, Netherlands, were asked to report a SARS-CoV-2 infection to their attending physician.

A total of 15 patients (10 with infantile-onset Pompe disease and 5 with late-onset disease) had been infected as of November 2021. The patients were contacted for regular telephone interviews to monitor their symptoms, medication use, use of ventilatory support, and need for hospitalization. The patients all completed a questionnaire about the SARS-CoV-2 vaccination and any side effects they had experienced.

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The symptoms were generally common and mild and lasted from 2 to 19 days. No patient needed hospitalization or was prescribed any medications for the infection. Some patients experienced longer-lasting symptoms such as fatigue, anosmia, chest and back pain, and mild shortness of breath during physical activity.

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By 4 months, these symptoms had subsided. Fifty patients indicated having been vaccinated, and 2 patients reported side effects: 1 needed increased ventilatory support on the day of vaccination, and the other developed perimyocarditis. However, both patients recovered with no further sequelae. In contrast to what the authors expected, no patients experienced a lasting decline in muscle function due to infection with SARS-CoV-2.

The research team cautioned that even though the course was mild in this cohort of patients, it is still unknown whether patients with severe Pompe disease are at increased risk for severe COVID-19. They, therefore, recommend continuing to regard Pompe disease as a risk factor for severe COVID-19, to manage patients accordingly, and to strongly encourage vaccination for all patients.


Ismailova G, Mackenbach MJ, van den Hout JMP, et al. Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description. Orphanet J Rare Dis. 2022;17(102). doi:10.1186/s13023-022-02268-y